Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
353 | APRT | adenine phosphoribosyltransferase | |
811 | CALR | calreticulin | |
1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | |
2990 | GUSB | glucuronidase beta | |
3425 | IDUA | alpha-L-iduronidase | |
3482 | IGF2R | insulin like growth factor 2 receptor | |
5333 | PLCD1 | phospholipase C delta 1 | |
5335 | PLCG1 | phospholipase C gamma 1 | |
10724 | OGA | O-GlcNAcase | |
51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
UniProt ID | Protein Name | Source |
---|---|---|
Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma | |
Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
HPO ID | HPO Term |
---|---|
HP:0004887 | Respiratory failure requiring assisted ventilation |
HP:0005280 | Depressed nasal bridge |
HP:0005487 | Prominent metopic ridge |
HP:0006203 | Decreased movement range in interphalangeal joints |
HP:0006248 | Limited wrist movement |
HP:0006380 | Knee flexion contracture |
HP:0006467 | Limited shoulder movement |
HP:0006596 | Restricted chest movement |
HP:0007421 | Telangiectases of the cheeks |
HP:0008897 | Postnatal growth retardation |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024